Canonical Allele Identifier: CA425909294
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44126448G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43899309G>C , CM000664.2:g.43899309G>C GRCh38
NC_000002.11:g.44126448G>C , CM000664.1:g.44126448G>C GRCh37
NC_000002.10:g.43979952G>C NCBI36
NG_008247.1:g.101697C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.166C>G
ENST00000472420.6:n.814C>G
ENST00000483489.2:n.166C>G
ENST00000681993.1:n.1287C>G
ENST00000682303.1:c.*3521C>G ENSP00000508325.1:n.*3521C>G
ENST00000682308.1:c.3735C>G ENSP00000507056.1:p.Ala1245=
ENST00000682434.1:n.1286C>G
ENST00000682480.1:c.3753C>G ENSP00000508344.1:p.Ala1251=
ENST00000682546.1:c.3732C>G ENSP00000508188.1:p.Ala1244=
ENST00000682585.1:c.3735C>G ENSP00000506885.1:p.Ala1245=
ENST00000682595.1:n.4319C>G
ENST00000682607.1:c.2153C>G
ENST00000682612.1:c.587C>G
ENST00000682779.1:c.3726C>G ENSP00000507947.1:p.Ala1242=
ENST00000682845.1:n.2837C>G
ENST00000682885.1:c.3690C>G ENSP00000508036.1:p.Ala1230=
ENST00000682933.1:n.3809C>G
ENST00000683002.1:c.587C>G
ENST00000683072.1:n.4319C>G
ENST00000683080.1:n.1354C>G
ENST00000683125.1:c.3843C>G ENSP00000507939.1:p.Ala1281=
ENST00000683213.1:c.3738C>G ENSP00000507751.1:p.Ala1246=
ENST00000683220.1:c.3765C>G ENSP00000507151.1:p.Ala1255=
ENST00000683329.1:n.4538C>G
ENST00000683346.1:c.*3610C>G ENSP00000507458.1:n.*3610C>G
ENST00000683409.1:n.2342C>G
ENST00000683459.1:n.4322C>G
ENST00000683528.1:c.663C>G
ENST00000683590.1:c.3483C>G ENSP00000506820.1:p.Ala1161=
ENST00000683623.1:c.3642C>G ENSP00000507702.1:p.Ala1214=
ENST00000683645.1:n.4286C>G
ENST00000683796.1:c.*3607C>G ENSP00000508221.1:n.*3607C>G
ENST00000683802.1:n.6660C>G
ENST00000683833.1:c.3726C>G ENSP00000506852.1:p.Ala1242=
ENST00000683994.1:c.3735C>G ENSP00000507181.1:p.Ala1245=
ENST00000684290.1:c.*1271C>G ENSP00000507243.1:n.*1271C>G
ENST00000684306.1:c.*3648C>G ENSP00000508384.1:n.*3648C>G
ENST00000684341.1:n.3755C>G
ENST00000684383.1:c.*3373C>G ENSP00000506863.1:n.*3373C>G
ENST00000684418.1:n.4916C>G
ENST00000684433.1:n.119C>G
ENST00000684454.1:n.3085C>G
ENST00000684619.1:c.*3607C>G ENSP00000508088.1:n.*3607C>G
ENST00000684743.1:n.6480C>G
ENST00000260665.12:c.3735C>G MANE Select ENSP00000260665.7:p.Ala1245=
ENST00000260665.11:c.3735C>G ENSP00000260665.7:p.Ala1245=
ENST00000463456.5:n.2778C>G
ENST00000472420.5:n.132C>G
ENST00000483489.1:n.209C>G
NM_133259.3:c.3735C>G NP_573566.2:p.Ala1245=
XM_006711915.2:c.3657C>G XP_006711978.1:p.Ala1219=
XM_011532473.1:c.3735C>G XP_011530775.1:p.Ala1245=
XM_011532474.1:c.3735C>G XP_011530776.1:p.Ala1245=
XM_017003117.1:c.3657C>G XP_016858606.1:p.Ala1219=
XR_002958896.1:n.3777C>G
NM_133259.4:c.3735C>G MANE Select NP_573566.2:p.Ala1245=